Phase II study of Genzyme's oral Gaucher's disease drug eliglustat yields positive results

In a study published on-line in Blood, the journal of the American Society of Hematology, researchers present positive results of a Phase II clinical trial of eliglustat tartrate, an oral therapy in development to treat Gaucher's disease by US biotechnology firm Genzyme.

Gaucher disease, a rare enzyme deficiency disorder, is one of many conditions with few approved treatment options for patients. The leading currently-approved drug is Genzyme's Cerezyme (imiglucerase for injection); but the product has been in short supply due to production facility problems at the company (The Pharma Letters passim). The US regulators have recently approved UK firm Shire's Vpriv (velaglucerase alfa for injection; TPL March 1) and, due to the Cerezyme problems, the Food and Drug Administration has said this drug is an alternative for patients. There is also Swiss biotechnology company Actelion's oral treatment for type 1 Gaucher's disease, Zavesca (miglustat).

Gaucher disease is a genetic disorder affecting an estimated 1 in 50,000 to 1 in 100,000 people in the US population. It occurs when a mutation of the glucocerebrosidase gene causes low activity of that enzyme in the body. As a result, harmful fatty substances accumulate in the liver, spleen, bones, and bone marrow, preventing cells and organs from working properly. The primary treatment option is enzyme replacement therapy, which is given intravenously, to break down the accumulated fatty substances.